A new disease causing short stature and multi-organ dysfunction discovered
Keywords:Researchers from HUS and the University of Helsinki participated in an American study that identified a new genetic defect causing growth disorders and a completely new genetic disease.
Petra Loid (University of Helsinki), Outi Mäkitie (HUS and University of Helsinki) Marita Lipsanen-Nyman (HUS and University of Helsinki) and Mari Muurinen (not in picture, University of Helsinki) were part of an international research study that discovered a new gene disorder causing short stature.
The factors behind short stature are poorly understood, but a child’s small size is a common reason for seeking medical evaluation.
“We have been conducting systematic research on the genetic factors of short stature for a couple of decades. With new genetic methods, it is increasingly possible to identify hereditary defects that cause short stature in children,” says Chief Physician and Professor Outi Mäkitie from HUS Children and Adolescents and the University of Helsinki.
A new genetic defect revealed a new rare disease
In Mäkitie’s research group, a large dataset of short-statured children originally collected by Docent Marita Lipsanen-Nyman was utilized. In the study, postdoctoral researcher Mari Muurinen identified a genetic defect in a new gene that had not previously been associated with growth. This discovery led to international collaboration led by a research group at the National Institute of Allergy and Infectious Diseases, part of the National Institutes of Health (NIH) in the United States.
An article published in the journal Science describes the results of the international collaborative study, in which genetic defects in the GNAI2 gene were identified in 20 patients. The study describes a new syndrome belonging to the so-called rasopathies class, which, in addition to growth, involves dysfunction of several organs and systems, notably the immune system. The patients in the article are the first in the world to be described with the disease.
“More patients will likely be found after the publication of this study, but it is probably a ultra-rare form of short stature”, says Postdoctoral Researcher Petra Loid from the University of Helsinki.
International collaboration is important in the research of rare diseases to identify new syndromes.
“As the spectrum of diseases expands, we also learn more about the normal regulation of growth and the physiological significance of different signaling pathways in cells. Rare hereditary short stature can be associated with other possible related problems, which is why an accurate diagnosis is important,” says Mäkitie.
This study was funded primarily by the NIH’s National Institute of Allergy and Infectious Diseases.
Research article: Germline mutations in a G-protein identify signaling crosstalk in T cells